Results 231 to 240 of about 72,104 (287)
British Journal of Haematology, EarlyView.Summary ETV6‐related thrombocytopenia (ETV6‐RT) is an inherited platelet disorder caused by germline ETV6 variants. Despite recent progress, the mechanisms underlying platelet dysfunction in ETV6‐RT remain unclear. We investigated 12 patients from six families using functional assays, electron microscopy, quantitative proteomics and cytoskeletal ...
Ivan P. Tesakov +15 more
wiley +1 more source
Amyloid‐β aggregates induce vasculopathy via ferroptosis in brain endothelial cells
Brain Pathology, EarlyView.Blood–brain barrier (BBB) disruption is evident in brains with amyloidopathy. In this study, we demonstrate that amyloid β (Aβ) drives abnormal lipid metabolism and lipid droplet formation in brain endothelial cells, leading to lipid peroxidation and ferroptosis.
Suhyeon Son +7 more
wiley +1 more source
The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease
Brain Pathology, EarlyView.SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery +17 more
wiley +1 more source
Clinical Genetics, EarlyView.Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem +2 more
wiley +1 more source
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]
, 2016 et al,, Pestronk, Alan
core +1 more source
SCD2 Alleviates Diabetes‐Associated Cognitive Dysfunction by Improving Microglial Lipid Metabolism
Cell Proliferation, EarlyView.This study reveals a novel mechanism of microglial metabolic dysfunction in diabetic cognitive impairment. Defective SCD2 disrupts monounsaturated fatty acid (MUFA) metabolism, triggering mitochondrial oxidative phosphorylation dysfunction and leading to abnormal lipid droplet accumulation (marked by PLIN2).
Yang Yang +5 more
wiley +1 more source
Cell Proliferation, EarlyView.This study provides the first definitive identification of tunnelling nanotubes (TNTs) between cultured osteocytes and shows TNT‐mediated lysosome transfer from healthy to stressed cells, restoring autophagic flux and preventing apoptosis. This discovery of transcellular autophagy reveals a new survival mechanism in osteocytes, offering potential ...
Jinbiao Qiang +16 more
wiley +1 more source
Journal of Cutaneous Pathology, EarlyView.ABSTRACT Crystal‐storing histiocytosis (CSH) is a rare histopathologic phenomenon characterized by the accumulation of crystalline material within histiocytes, most often associated with lymphoplasmacytic or plasma cell neoplasms. Cutaneous involvement is uncommon and may present diagnostic challenges.
Liangli Wang +8 more
wiley +1 more source